Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE The protective haplotype for MS in STAT3 is a risk allele for Crohn disease, implying that STAT3 represents a shared risk locus for at least two autoimmune diseases. 20159113 2010
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Janus kinase 2 (JAK2) and signal transducer and activator of transcription 3 (STAT3) polymorphisms have been demonstrated as a common risk factor for a number of autoimmune diseases. 22205606 2012
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE However, because IFN-α is thought to elicit its therapeutic effect via enhancement of an antitumor immune response mediated by lymphocytes that can be activated by IFN-α administrations, it is probable that the suppression of STAT3 in vivo relates to autoimmune disorders. 23052245 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Several STAT3 genetic variants have been associated to different autoimmune diseases. 23127549 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE The newly identified loci shared with other autoimmune diseases include candidate genes with roles in regulating T-cell function (such as RUNX3, TAGAP and STAT3). 23143594 2012
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Janus kinase 1 (JAK1), JAK2, and signal transducer and activator of transcription 3 (STAT3) play an important role in Th1 and Th17 differentiation and gene polymorphisms of these factors have been demonstrated to be associated with certain autoimmune diseases. 23611997 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 AlteredExpression group BEFREE GSPE may act as a therapeutic agent to treat immunologic diseases related with enhanced STAT3 activity such as metabolic disorders and autoimmune diseases. 24223854 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Interleukin-23 receptor (IL-23R) and signal transducer and activator of transcription 3 (STAT3) polymorphisms are common risk factors for a number of T helper (Th) 17-mediated autoimmune diseases. 24460100 2014
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE STAT3 and STAT5b mutations can be used as molecular markers for LGL leukemia diagnostics, and they present novel therapeutic targets for STAT3 and STAT5b inhibitors, which currently are in development for treatment of cancer and autoimmune disorders. 24512550 2014
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE These findings emphasize the critical role of STAT3 in autoimmune disease and contrast with the germline inactivating STAT3 mutations that result in hyper IgE syndrome. 25038750 2014
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group CTD_human These findings emphasize the critical role of STAT3 in autoimmune disease and contrast with the germline inactivating STAT3 mutations that result in hyper IgE syndrome. 25038750 2014
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE Our results broaden the spectrum of phenotypes caused by activating STAT3 mutations, highlight the role of STAT3 in the development and differentiation of multiple immune cell lineages, and strengthen the link between the STAT family of transcription factors and autoimmunity. 25349174 2015
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Here, we report on 13 individuals from 10 families with lymphoproliferation and early-onset solid-organ autoimmunity associated with 9 different germline heterozygous mutations in STAT3. 25359994 2015
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Recently, germline, heterozygous mutations in STAT3 that confer a gain-of-function have been discovered and result in early-onset, multi-organ autoimmunity. 26280891 2015
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Germline STAT3 gain-of-function mutations have recently been identified in patients with an early-onset autoimmunity/lymphoproliferative syndrome. 26574998 2016
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 PosttranslationalModification group BEFREE Calcitriol, the active form of vitamin D, has been shown to decrease STAT1 and STAT3 phosphorylation in cancer cell lines and autoimmune disease mouse models. 27715403 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE This case sheds light on the emerging role of signal transducer and activator of transcription 3 gain-of-function mutation in the pathogenesis of autoimmune diseases, and further addresses the therapeutic role of interleukin-6 blocker treatment in this syndrome. 28153428 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Germline STAT3 gain-of-function (GOF) mutations cause multiple endocrine and haematologic autoimmune disorders, lymphoproliferation, and growth impairment. 28253502 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE Nutritional control of IL-23/Th17-mediated autoimmune disease through HO-1/STAT3 activation. 28290522 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Activating germline mutations in STAT3 were recently identified as a cause of neonatal diabetes mellitus associated with beta-cell autoimmunity. 28402852 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE Job's (hyper IgE) syndrome or inflammatory bowel disease (IBD) have now established a clear-cut role for the IL-10/STAT3 axis in immune tolerance; further understanding of these processes could lead to novel therapeutic approaches for autoimmune diseases. 28631311 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Patients with germline STAT3 GOF mutations have an increased frequency of early-onset multiorgan autoimmunity (i.e. autoimmune enteropathy, type 1 diabetes mellitus, autoimmune interstitial lung disease and autoimmune cytopenias), lymphoproliferation, short stature and, less frequently, severe recurrent infections. 28914637 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE AT-rich interactive domain-containing protein 5a (Arid5a) is an RNA-binding protein (RBP) required for autoimmunity via stabilization of interleukin-6 (Il6) and signal transducer and activator of transcription 3 (STAT3) mRNAs. 29244194 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE These observations suggest that FRA1 and JUNB are associated closely with STAT3 activation, and that this activation leads to Th17 cell differentiation in autoimmune diseases and inflammation. 29326694 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Germinal heterozygous activating STAT3 mutations represent a novel monogenic defect associated with multi-organ autoimmune disease and, in some cases, severe growth retardation. 29378236 2018